Canonical Allele Identifier: CA343773523

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878719A>T (hg19) ; chr1:g.173909581A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909581A>T , CM000663.2:g.173909581A>T	GRCh38
NC_000001.10:g.173878719A>T , CM000663.1:g.173878719A>T	GRCh37
NC_000001.9:g.172145342A>T	NCBI36
NG_012462.1:g.12798T>A , LRG_577:g.12798T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1124T>A MANE Select	ENSP00000356671.3:p.Leu375Gln
ENST00000367698.3:c.1124T>A	ENSP00000356671.3:p.Leu375Gln
ENST00000617423.4:c.560-2088T>A	ENSP00000478688.1:n.560-2088T>A
NM_000488.3:c.1124T>A , LRG_577t1:c.1124T>A	NP_000479.1:p.Leu375Gln
XM_005245198.2:c.980T>A	XP_005245255.1:p.Leu327Gln
NM_001365052.1:c.980T>A	NP_001351981.1:p.Leu327Gln
NM_000488.4:c.1124T>A MANE Select	NP_000479.1:p.Leu375Gln
NM_001365052.2:c.980T>A	NP_001351981.1:p.Leu327Gln
NM_001386302.1:c.1247T>A	NP_001373231.1:p.Leu416Gln
NM_001386303.1:c.1205T>A	NP_001373232.1:p.Leu402Gln
NM_001386304.1:c.1103T>A	NP_001373233.1:p.Leu368Gln
NM_001386305.1:c.1067T>A	NP_001373234.1:p.Leu356Gln
NM_001386306.1:c.908T>A	NP_001373235.1:p.Leu303Gln